Mutagenetix > Incidental Mutation

Incidental Mutation 'R8933:Fgfrl1'

680432

Institutional Source

Beutler Lab

Gene Symbol

Fgfrl1

Ensembl Gene

ENSMUSG00000008090

Gene Name

fibroblast growth factor receptor-like 1

Synonyms

FGFR5, FGFR5beta, FGFR5gamma, fibroblast growth factor receptor 5

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8933 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108692382-108706924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108703391 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 58 (M58K)

Ref Sequence

ENSEMBL: ENSMUSP00000143037 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013633] [ENSMUST00000112560] [ENSMUST00000196222] [ENSMUST00000197255]

AlphaFold

Q91V87

Predicted Effect

probably damaging
Transcript: ENSMUST00000013633
AA Change: M58K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000013633
Gene: ENSMUSG00000008090
AA Change: M58K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGc2	38	102	2.64e-12	SMART
low complexity region	117	131	N/A	INTRINSIC
IGc2	159	224	1.35e-18	SMART
IGc2	255	341	6.16e-4	SMART
transmembrane domain	372	394	N/A	INTRINSIC
low complexity region	468	479	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112560

SMART Domains

Protein: ENSMUSP00000108179
Gene: ENSMUSG00000008090

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	26	40	N/A	INTRINSIC
IGc2	68	133	1.35e-18	SMART
IGc2	164	250	6.16e-4	SMART
transmembrane domain	281	303	N/A	INTRINSIC
low complexity region	377	388	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000196222
AA Change: M58K

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000143037
Gene: ENSMUSG00000008090
AA Change: M58K

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGc2	38	102	1.1e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197255

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (86/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. A marked difference between this gene product and the other family members is its lack of a cytoplasmic tyrosine kinase domain. The result is a transmembrane receptor that could interact with other family members and potentially inhibit signaling. Multiple alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show neonatal death due to respiratory distress, a malformed diaphragm, and lack of metanephric kidneys. Homozygotes for a different null allele show both fetal and neonatal death, a similar diaphragm defect, as well as cardiac and skeletal defects, and fetal anemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,128,137	I1114N	probably damaging	Het
Ache	C	A	5: 137,290,187	R52S	possibly damaging	Het
AI182371	A	T	2: 35,085,702		probably null	Het
Ankrd17	T	C	5: 90,258,466	S1453G	probably damaging	Het
Arvcf	A	G	16: 18,400,095	N508S	probably damaging	Het
Aurkc	A	C	7: 7,002,797	D136A	possibly damaging	Het
Bfsp2	A	G	9: 103,448,649	M265T	probably benign	Het
Bmpr1b	T	C	3: 141,856,608	T273A	probably damaging	Het
Cacnb1	T	C	11: 98,005,752	K406R	probably damaging	Het
Calcoco2	C	T	11: 96,107,426		probably benign	Het
Capza1	T	C	3: 104,840,893		probably null	Het
Ccdc63	T	A	5: 122,113,202	I382F	probably damaging	Het
Cep350	A	T	1: 155,863,415	N2227K	probably benign	Het
Chia1	T	A	3: 106,129,017	Y304*	probably null	Het
Col5a2	G	A	1: 45,421,963	P258L		Het
Cyp21a1	A	G	17: 34,804,311	L30P	probably damaging	Het
Dennd4b	T	A	3: 90,279,216	H1351Q	probably benign	Het
Dnah9	T	A	11: 65,855,252	I4012F	possibly damaging	Het
Drd1	A	G	13: 54,053,271	I301T	possibly damaging	Het
Dzip1	T	A	14: 118,906,914	H369L	probably damaging	Het
Ftsj3	G	T	11: 106,250,834	D529E	probably benign	Het
Fut9	A	T	4: 25,619,861	W318R	probably damaging	Het
Gabrg3	A	G	7: 56,984,958	I159T	probably damaging	Het
Gabrr1	A	T	4: 33,146,972	D53V	probably benign	Het
Ggps1	A	G	13: 14,054,343	V85A	probably benign	Het
Gm5141	C	T	13: 62,777,040	W18*	probably null	Het
Grik5	T	A	7: 25,023,318	T518S	probably benign	Het
Hapln3	A	T	7: 79,117,630		probably benign	Het
Hbs1l	C	T	10: 21,367,685	Q646*	probably null	Het
Hmox1	T	C	8: 75,097,016	I104T	probably benign	Het
Ifit1bl1	T	C	19: 34,594,013	Y348C	probably damaging	Het
Igf2r	A	T	17: 12,701,244	S1403T	probably damaging	Het
Igf2r	G	A	17: 12,704,637	T1186M	probably damaging	Het
Igfbp1	T	C	11: 7,198,333		probably null	Het
Ikbip	C	A	10: 91,083,230	A35E	probably benign	Het
Isca1	C	T	13: 59,769,683	A8T	probably damaging	Het
Itgb2	T	C	10: 77,565,188	L754P	probably damaging	Het
Itgb6	C	T	2: 60,627,903	C502Y	probably damaging	Het
Kdm3a	A	G	6: 71,600,108	V741A	probably benign	Het
Kdsr	T	C	1: 106,753,219	D83G	possibly damaging	Het
Kiz	T	A	2: 146,942,117	N523K		Het
Kmt2a	T	C	9: 44,822,505		probably benign	Het
Krt25	T	C	11: 99,321,238	E191G	probably benign	Het
Lipn	A	G	19: 34,069,480	I61V	probably damaging	Het
Lmbr1l	T	A	15: 98,909,269		probably null	Het
Lrrc4c	A	G	2: 97,629,481	K151E	probably benign	Het
Mab21l3	T	C	3: 101,823,458	Q155R	probably benign	Het
Mtfr2	G	A	10: 20,357,528	R281H	possibly damaging	Het
Muc5ac	A	G	7: 141,789,756	Y35C	possibly damaging	Het
Myadm	C	T	7: 3,296,917	T65I	probably benign	Het
Nap1l1	T	C	10: 111,492,849	V213A	probably benign	Het
Nav2	A	G	7: 49,461,957	D737G	probably damaging	Het
Ndst4	T	A	3: 125,611,506	V470D	probably damaging	Het
Nek5	T	A	8: 22,111,210	Y165F	probably damaging	Het
Nek5	A	T	8: 22,120,843	V48E	probably damaging	Het
Nr6a1	T	C	2: 38,760,388	I77V	probably damaging	Het
Nvl	A	T	1: 181,139,073	D93E	probably benign	Het
Olfr450	A	G	6: 42,818,016	T182A	probably benign	Het
Olfr552	A	T	7: 102,604,430	L25F	probably damaging	Het
Olfr656	A	T	7: 104,617,666	T4S	probably benign	Het
Olfr678	A	G	7: 105,069,392		probably benign	Het
Olfr780	A	T	10: 129,322,390	I256F	probably damaging	Het
Olfr96	C	A	17: 37,225,455	T110K	possibly damaging	Het
Pla2g4c	G	A	7: 13,339,702	V225I	probably benign	Het
Plppr4	T	A	3: 117,323,041	N331I	probably damaging	Het
Ptpn13	A	G	5: 103,579,805	R2051G	probably benign	Het
Rbm45	T	C	2: 76,378,724	S346P	probably damaging	Het
Samd14	A	C	11: 95,021,201	D168A	probably damaging	Het
Slc15a1	C	T	14: 121,486,679	G172R	probably benign	Het
Slco3a1	G	T	7: 74,284,500	Y641*	probably null	Het
Srcap	G	A	7: 127,552,394	R2027H	probably damaging	Het
Stra8	A	T	6: 34,927,689		probably benign	Het
Syt11	T	C	3: 88,747,704	Y430C	probably damaging	Het
Tanc1	T	G	2: 59,785,456	V269G	possibly damaging	Het
Tead1	A	G	7: 112,898,611	N342S	probably benign	Het
Tenm3	C	T	8: 48,279,060	A1254T	possibly damaging	Het
Txlnb	A	T	10: 17,806,798	N156I	probably damaging	Het
Ufl1	A	T	4: 25,262,258	S409R	possibly damaging	Het
Usp17la	A	G	7: 104,861,100	H304R	probably benign	Het
Vmn1r203	T	A	13: 22,524,521	H157Q	possibly damaging	Het
Vmn1r37	C	T	6: 66,732,247	R249*	probably null	Het
Vmn2r96	A	G	17: 18,583,979	Q497R	probably benign	Het
Vps39	A	G	2: 120,338,585	S292P	probably benign	Het
Wnk1	A	G	6: 120,036,998	V212A	probably damaging	Het
Xbp1	T	C	11: 5,524,741	V161A	probably benign	Het
Zfp113	T	C	5: 138,144,830	Q386R	probably damaging	Het

Other mutations in Fgfrl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00489:Fgfrl1	APN	5	108705887	missense	probably damaging	1.00
IGL00756:Fgfrl1	APN	5	108705953	missense	possibly damaging	0.91
IGL02641:Fgfrl1	APN	5	108705865	missense	probably damaging	1.00
R0725:Fgfrl1	UTSW	5	108704673	missense	probably damaging	0.99
R1398:Fgfrl1	UTSW	5	108706281	unclassified	probably benign
R1967:Fgfrl1	UTSW	5	108705005	missense	probably damaging	1.00
R2403:Fgfrl1	UTSW	5	108705031	missense	probably damaging	1.00
R3032:Fgfrl1	UTSW	5	108706060	missense	probably benign	0.13
R3605:Fgfrl1	UTSW	5	108705423	missense	probably damaging	0.96
R3606:Fgfrl1	UTSW	5	108705423	missense	probably damaging	0.96
R3607:Fgfrl1	UTSW	5	108705423	missense	probably damaging	0.96
R3767:Fgfrl1	UTSW	5	108705376	missense	possibly damaging	0.78
R4603:Fgfrl1	UTSW	5	108703535	missense	probably damaging	1.00
R4798:Fgfrl1	UTSW	5	108703497	nonsense	probably null
R5600:Fgfrl1	UTSW	5	108705302	missense	probably damaging	1.00
R6349:Fgfrl1	UTSW	5	108705506	missense	probably damaging	1.00
R6679:Fgfrl1	UTSW	5	108704972	nonsense	probably null
R6679:Fgfrl1	UTSW	5	108704973	missense	probably damaging	1.00
R7247:Fgfrl1	UTSW	5	108703499	missense	possibly damaging	0.91
R7608:Fgfrl1	UTSW	5	108705345	missense	probably damaging	1.00
R7947:Fgfrl1	UTSW	5	108705276	missense	probably damaging	0.96
R9039:Fgfrl1	UTSW	5	108705573	critical splice donor site	probably null
R9661:Fgfrl1	UTSW	5	108705975	missense	probably benign
X0018:Fgfrl1	UTSW	5	108704974	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTTCAGTGGAGTCCAGGTG -3'
(R):5'- CAATTTTGGCCCCACCGTAATC -3'

Sequencing Primer
(F):5'- GGGGTTCCACTGTGTCAAGC -3'
(R):5'- GTAATCTCTGACTTGAACACCAACTG -3'

Posted On

2021-08-31